AI and the World's Hard Problems · Life sciences · Nature (machine learning) · 2026-10-15
Spatiotemporal AI-based modeling of gene regulation and variant effects in the developing human brain using Seal
The study addresses how genetic variation shapes gene regulation in the developing human brain, where data are limited. The authors built Seal, an interpretable AI transfer learning framework that predicts gene expression and variant effects across 26 regions, 30 cell types and 7 developmental stages. In autism whole-genome data, Seal found a significant burden of de novo regulatory variants in transient fetal excitatory neurons.